A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2271n54



Internal ID20135695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1593304..1595159hg38UCSC Ensembl
chr12:1702470..1704325hg19UCSC Ensembl
chr12:1572731..1574586hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381856
hg191856
hg181856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556984, nsv556985, nsv556982
Samples
Known GenesFBXL14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2271n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer